Hs06516484_cn

• Gene Symbol: CTH
• Assay Reference Genome Location: Chr.1:70422272 on build GRCh38
• Cytoband: 1p31.1

Target Gene Details

• Entrez Gene ID: 1491
• Gene Name: cystathionine gamma-lyase
• Gene Aliases: -
• Location: Chr.1:70411218-70441949 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTH	NM_001190463.1			NP_001177392.1
	NM_001902.5			NP_001893.2
	NM_153742.4			NP_714964.2
	XM_005270509.3			XP_005270566.1
	AK223376.1			BAD97096.1
	AK303946.1
	AK310269.1
	BC015807.2			AAH15807.1
	BT006882.1			AAP35528.1
	S52028.1			AAB24699.1
	S52784.1			AAB24700.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv461828	Chr.1:70415034 - 70456677 on Build GRCh38	Loss	CTH
nsv830137	Chr.1:70300238 - 70493035 on Build GRCh38	Loss	HHLA3 ANKRD13C CTH
nsv522935	Chr.1:70421500 - 70422418 on Build GRCh38	Loss	CTH

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

sulfur amino acid catabolic process
cysteine metabolic process
protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine
cysteine biosynthetic process via cystathionine
cysteine biosynthetic process
transsulfuration
endoplasmic reticulum unfolded protein response
positive regulation of I-kappaB kinase/NF-kappaB signaling
protein sulfhydration
positive regulation of NF-kappaB transcription factor activity
protein homotetramerization
hydrogen sulfide biosynthetic process
'de novo' L-methionine biosynthetic process
positive regulation of aortic smooth muscle cell differentiation
negative regulation of apoptotic signaling pathway

Function(s)

cystathionine gamma-synthase activity
cystathionine gamma-lyase activity
protein binding
calmodulin binding
carbon-sulfur lyase activity
pyridoxal phosphate binding
L-cystine L-cysteine-lyase (deaminating)
homocysteine desulfhydrase activity
L-cysteine desulfhydrase activity